NOD2 (NM_022162.1) sequence variants
(CARD15/IBD1/CLR16.3/NLRC2)

Editor(s): Suzanne LESAGE   

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Total current number of sequence variants for NOD2 : 168

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
c.-53C>T
5UT
c.-53C>T
-Likely benignVALIDATED
 2011-10-21
c.-37 T>G
intron 1
c.74-29T>G
-Likely benignVALIDATED
 2003-05-14
c.-33G>T
intron 1
c.74-25G>T
-Likely benignVALIDATED
 2003-05-13
c.-15T>A
intron 1
c.74-7T>A
-Uncertain significance (VOUS)VALIDATED
 2003-05-13
R38M
exon 2
c.113G>T
p.(Arg38Met)Uncertain significance (VOUS)VALIDATED
 2007-10-29
L81V
exon 2
c.241C>G
p.(Leu81Val)Uncertain significance (VOUS)VALIDATED
 2016-10-13
A105A
exon 2
c.315G>A
p.(=)Likely benignVALIDATED
 2003-05-06
D113N
exon 2
c.337G>A
p.(Asp113Asn)Uncertain significance (VOUS)VALIDATED
 2004-08-05
L119L
exon 2
c.357G>T
p.(=)Likely benignVALIDATED
 2003-05-06
R138Q
exon 2
c.413G>A
p.(Arg138Gln)Uncertain significance (VOUS)VALIDATED
 2003-05-14
A140T
exon 2
c.418G>A
p.(Ala140Thr)Likely benignVALIDATED
 2003-05-06
D154N
exon 2
c.460G>A
p.(Asp154Asn)Not classifiedTo be validated
 2019-05-13
L155Q
exon 2
c.464T>A
p.(Leu155Gln)Uncertain significance (VOUS)To be validated
 2019-05-13
W157R
exon 2
c.469T>C
p.(Trp157Arg)Likely benignVALIDATED
 2003-05-13
S178S
exon 2
c.534C>G
p.(=)Likely benignVALIDATED
 2003-05-13
T189M
exon 3
c.566C>T
p.(Thr189Met)Uncertain significance (VOUS)VALIDATED
 2003-05-13
T189T
exon 3
c.567G>A
p.(Thr189=)Likely benignTo be validated
 2019-05-13
F198L
exon 3
c.594C>G
p.(Phe198Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
A211A
exon 3
c.633C>T
p.(=)Likely benignVALIDATED
 2003-05-13
c.647-18_16 delTCT
intron 3
c.647-18_647-16delTCT
-Likely benignVALIDATED
 2012-09-27
K225M
exon 4
c.674A>T
p.(Lys225Met)Likely pathogenicTo be validated
 2019-05-13
Q233X
exon 4
c.697C>T
p.(Gln233*)Likely pathogenicVALIDATED
 2012-10-24
R235C
exon 4
c.703C>T
p.(Arg235Cys)Likely pathogenicVALIDATED
 2003-05-13
T245M
exon 4
c.734C>T
p.(Thr245Met)Uncertain significance (VOUS)VALIDATED
 2011-09-02
L248R
exon 4
c.743T>G
p.(Leu248Arg)Uncertain significance (VOUS)VALIDATED
 2003-05-13
P268S/SNP5
exon 4
c.802C>T
p.(Pro268Ser)Likely benignVALIDATED
 2003-06-04
H287Y
exon 4
c.859C>T
p.(His287Tyr)Uncertain significance (VOUS)VALIDATED
 2015-12-23
N289S
exon 4
c.866A>G
p.(Asn289Ser)Uncertain significance (VOUS)VALIDATED
 2003-05-13
D291N
exon 4
c.871G>A
p.(Asp291Asn)Uncertain significance (VOUS)VALIDATED
 2003-05-13
A292V
exon 4
c.875C>T
p.(Ala292Val)Not classifiedTo be validated
 2019-05-13
T294S
exon 4
c.881C>G
p.(Thr294Ser)Likely benignVALIDATED
 2003-05-13
V298V
exon 4
c.894G>A
p.(Val298=)Uncertain significance (VOUS)To be validated
 2019-05-13
A301V
exon 4
c.902C>T
p.(Ala301Val)Uncertain significance (VOUS)VALIDATED
 2003-05-13
R311W
exon 4
c.931C>T
p.(Arg311Trp)Uncertain significance (VOUS)VALIDATED
 2003-05-13
R334W
exon 4
c.1000C>T
p.(Arg334Trp)PathogenicVALIDATED
 2003-05-14
R334Q
exon 4
c.1001G>A
p.(Arg334Gln)PathogenicVALIDATED
 2003-05-14
L348V
exon 4
c.1042C>G
p.(Leu348Val)Likely pathogenicVALIDATED
 2003-05-13
L349F
exon 4
c.1045C>T
p.(Leu349Phe)Uncertain significance (VOUS)VALIDATED
 2016-11-07
H352R
exon 4
c.1055A>G
p.(His352Arg)Likely benignVALIDATED
 2003-05-13
W355X
exon 4
c.1065G>A
p.(Trp355*)Likely pathogenicVALIDATED
 2007-10-29
D357A
exon 4
c.1070A>C
p.(Asp357Ala)Uncertain significance (VOUS)VALIDATED
 2004-08-05
I363F
exon 4
c.1087A>T
p.(Ile363Phe)Likely benignVALIDATED
 2004-08-05
R373C
exon 4
c.1117C>T
p.(Arg373Cys)Likely benignVALIDATED
 2003-05-13
D382N
exon 4
c.1144G>A
p.(Asp382Asn)Likely pathogenicVALIDATED
 2014-10-21
D382E
exon 4
c.1146C>G
p.(Asp382Glu)Likely pathogenicVALIDATED
 2004-10-04
E383K
exon 4
c.1147G>A
p.(Glu383Lys)Likely pathogenicVALIDATED
 2005-05-11
E383G
exon 4
c.1148A>G
p.(Glu383Gly)Likely pathogenicVALIDATED
 2009-01-13
D390V
exon 4
c.1169A>T
p.(Asp390Val)Likely pathogenicVALIDATED
 2015-04-02
R391C
exon 4
c.1171C>T
p.(Arg391Cys)Uncertain significance (VOUS)VALIDATED
 2006-05-10
R393H
exon 4
c.1178G>A
p.(Arg393His)Uncertain significance (VOUS)VALIDATED
 2011-09-02
N414S
exon 4
c.1241A>G
p.(Asn414Ser)Uncertain significance (VOUS)VALIDATED
 2003-05-13
R426H
exon 4
c.1277G>A
p.(Arg426His)Likely pathogenicVALIDATED
 2018-04-30
P427S
exon 4
c.1279C>T
p.(Pro427Ser)Uncertain significance (VOUS)To be validated
 2019-05-13
P427P
exon 4
c.1281G>A
p.(=)Likely benignVALIDATED
 2003-05-13
S431L
exon 4
c.1292C>T
p.(Ser431Leu)Likely benignVALIDATED
 2003-05-13
A432V
exon 4
c.1295C>T
p.(Ala432Val)Likely benignVALIDATED
 2003-05-13
E441K
exon 4
c.1321G>A
p.(Glu441Lys)Uncertain significance (VOUS)VALIDATED
 2003-05-13
L456L
exon 4
c.1366C>T
p.(=)Likely benignVALIDATED
 2003-05-13
R459R/SNP6
exon 4
c.1377C>T
p.(=)Likely benignVALIDATED
 2003-05-13
P463A
exon 4
c.1387C>G
p.(Pro463Ala)Uncertain significance (VOUS)VALIDATED
 2006-05-10
G464W
exon 4
c.1390G>T
p.(Gly464Trp)Likely pathogenicVALIDATED
 2008-08-18
L469F
exon 4
c.1405C>T
p.(Leu469Phe)Likely pathogenicVALIDATED
 2003-05-14
H480R
exon 4
c.1439A>G
p.(His480Arg)Likely pathogenicVALIDATED
 2016-12-27
G481D
exon 4
c.1442G>A
p.(Gly481Asp)Likely pathogenicVALIDATED
 2009-04-14
c.1447T>C
exon 4
c.1447T>C
p.(Cys483Arg)Likely pathogenicTo be validated
 2019-03-27
W490L
exon 4
c.1469G>T
p.(Trp490Leu)Likely pathogenicVALIDATED
 2006-01-05
C495Y
exon 4
c.1484G>A
p.(Cys495Tyr)Likely pathogenicVALIDATED
 2005-05-27
H496L
exon 4
c.1487A>T
p.(His496Leu)Likely pathogenicVALIDATED
 2004-10-04
E498_L500delinsV
exon 4
c.1493_1498del6
p.(Glu498_Leu500delinsVal)Likely pathogenicVALIDATED
 2011-09-02
L501P
exon 4
c.1502T>C
p.(Leu501Pro)Likely pathogenicVALIDATED
 2013-05-06
E503E
exon 4
c.1509G>A
p.(=)Likely benignVALIDATED
 2003-05-13
P507S
exon 4
c.1519C>T
p.(Pro507Ser)Likely pathogenicVALIDATED
 2015-02-20
T510I
exon 4
c.1529C>T
p.(Thr510Ile)Uncertain significance (VOUS)To be validated
 2019-05-13
D512H
exon 4
c.1534G>C
p.(Asp512His)Likely pathogenicVALIDATED
 2013-02-05
D512Y
exon 4
c.1534G>T
p.(Asp512Tyr)Not classifiedTo be validated
 2019-04-19
M513T
exon 4
c.1538T>C
p.(Met513Thr)Likely pathogenicVALIDATED
 2004-10-04
M513R
exon 4
c.1538T>G
p.(Met513Arg)Likely pathogenicVALIDATED
 2011-05-17
H520Y
exon 4
c.1558C>T
p.(His520Tyr)Likely pathogenicVALIDATED
 2014-10-21
P527P
exon 4
c.1581C>G
p.(=)Likely benignVALIDATED
 2003-05-13
L550V
exon 4
c.1648C>G
p.(Leu550Val)Uncertain significance (VOUS)VALIDATED
 2004-08-05
558DELLG
exon 4
c.1672_1677del
p.(Leu558_Gly559del)Likely pathogenicVALIDATED
 2003-05-13
Y563H
exon 4
c.1687T>C
p.(Tyr563His)Likely pathogenicVALIDATED
 2013-02-05
R587C
exon 4
c.1759C>T
p.(Arg587Cys)Likely pathogenicVALIDATED
 2005-05-27
R587R/SNP7
exon 4
c.1761T>G
p.(Arg587Arg)Likely benignVALIDATED
 2003-05-13
T596T
exon 4
c.1788G>A
p.(=)Likely benignVALIDATED
 2003-05-13
E600K
exon 4
c.1798G>A
p.(Glu600Lys)Likely pathogenicVALIDATED
 2014-10-21
E600A
exon 4
c.1799A>C
p.(Glu600Ala)Likely pathogenicVALIDATED
 2014-10-21
H603R
exon 4
c.1808A>G
p.(His603Arg)Likely pathogenicVALIDATED
 2018-03-26
T605P
exon 4
c.1813A>C
p.(Thr605Pro)Likely pathogenicVALIDATED
 2004-10-04
T605N
exon 4
c.1814C>A
p.(Thr605Asn)Likely pathogenicVALIDATED
 2011-05-17
A611A
exon 4
c.1833C>T
p.(=)Likely benignVALIDATED
 2003-05-13
A612T
exon 4
c.1834G>A
p.(Ala612Thr)Likely pathogenicVALIDATED
 2003-05-13
A612V
exon 4
c.1835C>T
p.(Ala612Val)Likely pathogenicVALIDATED
 2003-05-13
E667K
exon 4
c.1999G>A
p.(Glu667Lys)Likely pathogenicVALIDATED
 2016-09-26
P668L
exon 4
c.2003C>T
p.(Pro668Leu)Uncertain significance (VOUS)VALIDATED
 2015-12-23
N670K
exon 4
c.2010C>A
p.(Asn670Lys)Likely pathogenicVALIDATED
 2004-10-04
F677L
exon 4
c.2031C>G
p.(Phe677Leu)Not classifiedTo be validated
 2019-05-13
L682F
exon 4
c.2046G>T
p.(Leu682Phe)Likely pathogenicVALIDATED
 2015-12-23
R684W
exon 4
c.2050C>T
p.(Arg684Trp)Likely benignVALIDATED
 2003-05-13
R684Q
exon 4
c.2051G>A
p.(Arg684Gln)Uncertain significance (VOUS)VALIDATED
 2013-07-03
R702W/SNP8
exon 4
c.2104C>T
p.(Arg702Trp)Likely benignVALIDATED
 2003-06-04
R703C
exon 4
c.2107C>T
p.(Arg703Cys)Likely benignVALIDATED
 2003-05-13
R713C
exon 4
c.2137C>T
p.(Arg713Cys)Uncertain significance (VOUS)VALIDATED
 2003-05-13
R713H
exon 4
c.2138G>A
p.(Arg713His)Uncertain significance (VOUS)VALIDATED
 2006-05-10
A725G
exon 4
c.2174C>G
p.(Ala725Gly)Likely benignVALIDATED
 2003-05-13
P727L
exon 4
c.2180C>T
p.(Pro727Leu)Uncertain significance (VOUS)VALIDATED
 2007-10-29
V733L
exon 4
c.2197G>T
p.(Val733Leu)Uncertain significance (VOUS)VALIDATED
 2016-10-13
I740I
exon 4
c.2220C>T
p.(=)Likely benignVALIDATED
 2003-05-13
A755V
exon 4
c.2264C>T
p.(Ala755Val)Uncertain significance (VOUS)VALIDATED
 2003-05-13
A758V
exon 4
c.2273C>T
p.(Ala758Val)Uncertain significance (VOUS)VALIDATED
 2003-05-13
R760C
exon 4
c.2278C>T
p.(Arg760Cys)Uncertain significance (VOUS)VALIDATED
 2006-05-10
E778K
exon 4
c.2332G>A
p.(Glu778Lys)Likely pathogenicVALIDATED
 2003-05-13
R790W
exon 4
c.2368C>T
p.(Arg790Trp)Uncertain significance (VOUS)VALIDATED
 2006-05-10
R791W
exon 4
c.2371C>T
p.(Arg791Trp)Uncertain significance (VOUS)VALIDATED
 2006-05-10
R791Q
exon 4
c.2372G>A
p.(Arg791Gln)Uncertain significance (VOUS)VALIDATED
 2003-09-08
V793M
exon 4
c.2377G>A
p.(Val793Met)Likely benignVALIDATED
 2003-05-13
V802V
exon 4
c.2406G>T
p.(=)Likely benignVALIDATED
 2010-01-13
Q809K
exon 4
c.2425C>A
p.(Gln809Lys)Likely pathogenicVALIDATED
 2014-10-21
V816I
exon 4
c.2446G>A
p.(Val816Ile)Uncertain significance (VOUS)VALIDATED
 2016-10-27
c.2462+10 A>C
intron 4
c.2462+10A>C
-Likely benignVALIDATED
 2003-05-13
D824N
exon 5
c.2470G>A
p.(Asp824Asn)Likely benignVALIDATED
 2003-09-08
N825K
exon 5
c.2475C>G
p.(Asn825Lys)Uncertain significance (VOUS)VALIDATED
 2006-05-10
I836T
exon 5
c.2507T>C
p.(Ile836Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
E843K
exon 5
c.2527G>A
p.(Glu843Lys)Uncertain significance (VOUS)VALIDATED
 2003-05-13
A849V
exon 5
c.2546C>T
p.(Ala849Val)Uncertain significance (VOUS)VALIDATED
 2006-05-10
c.2546+2dup
intron 5
c.2546+2dup
-Uncertain significance (VOUS)VALIDATED
 2017-12-06
c.2547-11G>T
intron 5
c.2547-11G>T
-Likely benignVALIDATED
 2013-10-15
N852S
exon 6
c.2555A>G
p.(Asn852Ser)Likely pathogenicVALIDATED
 2004-08-05
N853S
exon 6
c.2558A>G
p.(Asn853Ser)Uncertain significance (VOUS)VALIDATED
 2003-05-13
M863V
exon 6
c.2587A>G
p.(Met863Val)Likely benignVALIDATED
 2003-05-13
F873F
exon 6
c.2619C>T
p.(=)Likely benignVALIDATED
 2003-05-13
c.2630+35 T>A
intron 6
c.2630+35T>A
-Likely benignVALIDATED
 2003-05-13
c.2631-5 T>C
intron 6
c.2631-5T>C
-Likely benignVALIDATED
 2003-05-13
A885T
exon 7
c.2653G>A
p.(Ala885Thr)Likely benignPROVISIONAL
 2011-09-02
A885P
exon 7
c.2653G>C
p.(Ala885Pro)Likely pathogenicTo be validated
 2019-05-13
A886T
exon 7
c.2656G>A
p.(Ala886Thr)Likely benignPROVISIONAL
 2003-05-13
R896X
exon 7
c.2686C>T
p.(Arg896*)Likely pathogenicVALIDATED
 2011-09-02
Q902K
exon 7
c.2704C>A
p.(Gln902Lys)Likely benignVALIDATED
 2015-12-23
c.2715-81 G>A
intron 7
c.2715-81G>A
-Likely benignVALIDATED
 2003-09-08
c.2715-75 G>A
intron 7
c.2715-75G>A
-Likely benignVALIDATED
 2003-09-08
W907R
exon 8
c.2719T>C
p.(Trp907Arg)Uncertain significance (VOUS)VALIDATED
 2007-10-29
G908R/SNP12
exon 8
c.2722G>C
p.(Gly908Arg)Uncertain significance (VOUS)VALIDATED
 2003-06-04
G908C
exon 8
c.2722G>T
p.(Gly908Cys)Not classifiedTo be validated
 2019-05-13
D913D
exon 8
c.2739C>T
p.(=)Likely benignVALIDATED
 2003-05-13
E914K
exon 8
c.2740G>A
p.(Glu914Lys)Uncertain significance (VOUS)VALIDATED
 2013-08-27
A918D
exon 8
c.2753C>A
p.(Ala918Asp)Uncertain significance (VOUS)VALIDATED
 2003-05-13
G924D
exon 8
c.2771G>A
p.(Gly924Asp)Likely benignVALIDATED
 2003-05-13
JW1
intron 8
c.2798+158C>T
-Likely benignVALIDATED
 2011-09-02
I939V
exon 9
c.2815A>G
p.(Ile939Val)Not classifiedTo be validated
 2019-05-13
I939I
exon 9
c.2817T>C
p.(=)Likely benignVALIDATED
 2003-05-13
V955I
exon 9
c.2863G>A
p.(Val955Ile)Likely benignVALIDATED
 2003-05-13
2883-2A>G
intron 9
c.2883-2A>G
p.?Uncertain significance (VOUS)To be validated
 2019-05-13
E970G
exon 10
c.2909A>G
p.(Glu970Gly)Not classifiedTo be validated
 2019-05-13
V972I
exon 10
c.2914G>A
p.(Val972Ile)Likely benignVALIDATED
 2003-05-13
L975L
exon 10
c.2925C>T
p.(=)Likely benignVALIDATED
 2003-09-05
G978E
exon 10
c.2933G>A
p.(Gly978Glu)Uncertain significance (VOUS)VALIDATED
 2003-05-14
c.2998G>A
exon 4
c.2998G>A
p.(Ala1000Thr)Not classifiedTo be validated
 2018-09-03
1007FS/SNP13
exon 11
c.3019dupC
p.(Leu1007Profs*2)Likely pathogenicVALIDATED
 2003-06-04
c.3051-102 C>G
intron 11
c.3051-102C>G
-Likely benignVALIDATED
 2003-05-14
R1019X
exon 12
c.3055C>T
p.(Arg1019*)Likely pathogenicVALIDATED
 2007-10-29
R1019G
exon 12
c.3055C>G
p.(Arg1019Gly)Uncertain significance (VOUS)VALIDATED
 2011-09-02
R1019L
exon 12
c.3056G>T
p.(Arg1019Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
c.*9G>A
3UT
c.*9G>A
-Likely benignVALIDATED
 2003-05-14
c.3498G>A
3UT
c.*375G>A
-Likely benignVALIDATED
 2011-10-21
*873C>T
3UT
c.*873C>T
-Likely benignVALIDATED
 2010-02-01
c.3505C>T
3UT
c.*982C>T
-Likely benignVALIDATED
 2011-10-21
*1030T>C
3UT
c.*1030T>C
-Likely benignVALIDATED
 2010-02-01
c.4323A>G
3UT
c.*1200A>G
-Likely benignVALIDATED
 2011-10-21